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Items: 1 to 20 of 81

1.
Identification and validation of IRF6 related to ovarian cancer and biological function and prognostic value
Shihao Hong, Ni Fu, Shanliang Sang, Xudong Ma, Fangying Sun, Xiao Zhang
J Ovarian Res. 2024; 17: 64. Published online 2024 Mar 16. doi: 10.1186/s13048-024-01386-4
PMCID:
PMC10943877
AbstractArticlePDF–7.0M
2.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849
PMCID:
PMC10137688
AbstractArticlePDF–2.5M
3.
IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population
Venkatesh Babu Gurramkonda, Altaf Hussain Syed, Jyotsna Murthy, Bhaskar V.K.S. Lakkakula
Braz J Otorhinolaryngol. 2018 Jul-Aug; 84(4): 473–477. Published online 2017 Jun 26. doi: 10.1016/j.bjorl.2017.05.011
PMCID:
PMC9449191
AbstractArticlePDF–586K
4.
IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate
João Felipe Bezerra, Heglayne Pereira Vital da Silva, Raul Hernandes Bortolin, André Ducati Luchessi, Marcela Abbott Galvão Ururahy, Melina Bezerra Loureiro, Vera Lúcia Gil-da-Silva-Lopes, Maria das Graças Almeida, Viviane Souza do Amaral, Adriana Augusto de Rezende
Braz J Otorhinolaryngol. 2020 Nov-Dec; 86(6): 696–702. Published online 2019 Jun 8. doi: 10.1016/j.bjorl.2019.04.011
PMCID:
PMC9422540
AbstractArticlePDF–591K
5.
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello
Ital J Pediatr. 2022; 48: 132. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01330-6
PMCID:
PMC9338470
AbstractArticlePDF–1.0M
6.
Van der Woude综合征一家系遗传学分析
Yuqing XU, Yeqing QIAN, Weimiao YAO, Minyue DONG
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Aug 25; 48(4): 378–383. Chinese. doi: 10.3785/j.issn.1008-9292.2019.08.05
PMCID:
PMC8800747
AbstractArticlePDF–3.6M
7.
Interferon regulatory factor 6 regulates the delivery of E-cadherin to the plasma membrane
Angelo Antiguas, Kris A. DeMali, Martine Dunnwald
J Invest Dermatol. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: J Invest Dermatol. 2022 Feb; 142(2): 314–322. Published online 2021 Jul 24. doi: 10.1016/j.jid.2021.06.031
PMCID:
PMC8784568
AbstractArticlePDF–2.6M
8.
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate
Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L. Maas, Becky Tsai, Hanlin Gao, William Magee, III, Timothy C. Cox, Pedro A. Sanchez-Lara
Genes (Basel) 2020 Aug; 11(8): 903. Published online 2020 Aug 7. doi: 10.3390/genes11080903
PMCID:
PMC7465030
AbstractArticlePDF–957K
9.
Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
Azeez A. Alade, Carmen J. Buxo‐Martinez, Peter A. Mossey, Lord J.J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Thirona Naicker, Waheed A. Awotoye, Chinyere Adeleke, Tamara Busch, Ada M. Toraño, Carolina A. Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F. Cordero, Lydia M. Lopez‐Del Valle, Maria I. Salcedo, Natalio Debs, Mary Li, Aline Petrin, Joy Olotu, Colleen Aldous, James Olutayo, Modupe O. Ogunlewe, Fekir Abate, Taye Hailu, Ibrahim Muhammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Oluwole A. Adeniyan, Solomon Obiri‐Yeboah, Fareed K.N. Arthur, Alexander A. Oti, Olubukola Olatosi, Sara E. Miller, Peter Donkor, Martine M. Dunnwald, Mary L. Marazita, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali
Mol Genet Genomic Med. 2020 Aug; 8(8): e1355. Published online 2020 Jun 17. doi: 10.1002/mgg3.1355
PMCID:
PMC7434609
AbstractArticlePDF–547K
10.
Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome
Yanqin Yu, Yatao Wan, Chuanqi Qin, Haitang Yue, Zhuan Bian, Miao He
Mol Genet Genomic Med. 2020 May; 8(5): e1196. Published online 2020 Feb 28. doi: 10.1002/mgg3.1196
PMCID:
PMC7216816
AbstractArticlePDF–1.1M
11.
Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family
DINESH S. MANJEGOWDA, MANU PRASAD, AVINASH M. VEERAPPA, NALLUR B. RAMACHANDRA
Genet Res (Camb) 2014; 96: e12. Published online 2014 Oct 10. doi: 10.1017/S0016672314000159
PMCID:
PMC7045075
AbstractArticlePDF–623K
12.
干扰素调节因子6基因致病的Van der Woude综合征的家系调查和遗传特点分析
杜 新雅, 李 晓宇, 武 斌, 谢 春, 田 卫东
Hua Xi Kou Qiang Yi Xue Za Zhi. 2018 Dec; 36(6): 623–627. Chinese. doi: 10.7518/hxkq.2018.06.008
PMCID:
PMC7039798
AbstractArticlePDF–1.5M
13.
Common variation near IRF6 is associated with IFN-β induced liver injury in multiple sclerosis
Kaarina Kowalec, Galen EB Wright, Britt I Drögemöller, Folefac Aminkeng, Amit P Bhavsar, Elaine Kingwell, Eric M Yoshida, Anthony Traboulsee, Ruth Ann Marrie, Marcelo Kremenchutzky, Trudy L Campbell, Pierre Duquette, Naga Chalasani, Mia Wadelius, Pär Hallberg, Zongqi Xia, Philip L De Jager, Joshua C Denny, Mary F Davis, Colin JD Ross, Helen Tremlett, Bruce C Carleton
Nat Genet. Author manuscript; available in PMC 2019 May 13.
Published in final edited form as: Nat Genet. 2018 Aug; 50(8): 1081–1085. Published online 2018 Jul 16. doi: 10.1038/s41588-018-0168-y
PMCID:
PMC6513312
ArticlePDF–460K
14.
Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome
Ms. Katherine Hixon, Ms. Lindsey Rhea, Ms. Jennifer Standley, Mr. Frank J. Canady, Dr. John W. Canady, Dr. Martine Dunnwald
Cleft Palate Craniofac J. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Cleft Palate Craniofac J. 2017 May; 54(3): 281–286. Published online 2016 Apr 26. doi: 10.1597/15-275
PMCID:
PMC5776006
AbstractArticlePDF–888K
15.
Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency
Eline Starink, Anita C. S. Hokken-Koelega, Theo J. Visser, Janneke Baan, Robin P. Peeters, Laura C. G. de Graaff
Pituitary. 2017; 20(5): 499–508. Published online 2017 Jun 7. doi: 10.1007/s11102-017-0808-8
PMCID:
PMC5606942
AbstractArticlePDF–1.6M
16.
Silencing of interferon regulatory factor gene 6 in melanoma
Yoshimasa Nobeyama, Hidemi Nakagawa
PLoS One. 2017; 12(9): e0184444. Published online 2017 Sep 6. doi: 10.1371/journal.pone.0184444
PMCID:
PMC5587289
AbstractArticlePDF–2.2M
17.
Interferon Regulatory Factor 6 Promotes Keratinocyte Differentiation in Response to Porphyromonas gingivalis
Jennifer Huynh, Glen M. Scholz, Jiamin Aw, Eric C. Reynolds
Infect Immun. 2017 May; 85(5): e00858-16. Prepublished online 2017 Mar 13. Published online 2017 Apr 21. doi: 10.1128/IAI.00858-16
PMCID:
PMC5400842
AbstractArticlePDF–1.1M
18.
Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta‐analysis
Kachin Wattanawong, Sasivimol Rattanasiri, Mark McEvoy, John Attia, Ammarin Thakkinstian
Birth Defects Res A Clin Mol Teratol. 2016 Sep; 106(9): 773–788. Published online 2016 Aug 11. doi: 10.1002/bdra.23540
PMCID:
PMC5095821
AbstractArticlePDF–684K
19.
IRF6 mutation screening in nonsyndromic orofacial clefting: analysis of 1521 families
Elizabeth J. Leslie, Daniel C. Koboldt, Chul Joo Kang, Lian Ma, Jacqueline T. Hecht, George L. Wehby, Kaare Christensen, Andrew E. Czeizel, Frederic W.-B. Deleyiannis, Robert S. Fulton, Richard K. Wilson, Terri H. Beaty, Brian C. Schutte, Jeffrey C. Murray, Mary L. Marazita
Clin Genet. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Clin Genet. 2016 Jul; 90(1): 28–34. Published online 2015 Oct 1. doi: 10.1111/cge.12675
PMCID:
PMC4783275
AbstractArticlePDF–97K
20.
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
Elizabeth J. Leslie, Jennifer Standley, John Compton, Sherri Bale, Brian C. Schutte, Jeffrey C. Murray
Genet Med. 2013 May; 15(5): 338–344. Published online 2012 Nov 15. doi: 10.1038/gim.2012.141
PMCID:
PMC3723330
AbstractArticlePDF–492K

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